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Neurological Rehabilitation

A Potential Genetic Etiology to Complicate the Evaluation of Intrathecal Baclofen Pump? A Case Report

Saturday, October 25, 2025
8:00 AM - 9:15 AM MT
Location: Kiosk 6

    Primary Author(s)

  • Gregory CJ Moellering, MD

    Resident Physician
    Ohio State University Wexner Medical Center
    Columbus, Ohio

    • Poster Presenter(s)

  • TR

    Tyler Roach, MD

    Resident Physician
    Ohio State University Hospital PM&R Program
    Columbus, Ohio

    • Co-Author(s)

  • SB

    Sheital Bavishi, DO

    Associate Professor-Clinical, Residency Program Director, Medical Director Brain Injury Program
    Ohio State University Hospital PM&R Program
    Columbus, Ohio

Disclosure(s):
Gregory CJ Moellering, MD: No financial relationships to disclose
Case Diagnosis: Hereditary Spastic Paraparesis

Case Description or Program Description: A 73-year-old male with familial history of autosomal dominant hereditary spastic paraparesis (AD-HSP) and an intrathecal baclofen pump developed recurrent episodes of acute spasticity with elevated creatinine phosphokinase (CPK). He had initial onset of lower limb spasticity and weakness in his mid-20’s and developed symmetric distal polyneuropathy in his 60’s with gradual worsening of symptoms over time. Spasticity had been well-controlled on intrathecal baclofen pump until he was hospitalized 3 times from 2022-2024 for acute lower limb spasticity with elevated CPK>500. CPK levels remained persistently elevated despite increased intrathecal baclofen dosing and oral baclofen. Baclofen pump was investigated without evidence of malfunction on device interrogations and bedside catheter access port (CAP) studies were normal, causing concern for intermittent positional catheter occlusion.

Fluoroscopic catheter dye evaluation was performed in September 2024 and demonstrated resistance to infusion. The patient subsequently had catheter revision in December 2024. He was referred to Neurogenetics as his brother (confirmed AD-HSP) and asymptomatic daughter (no AD-HSP on genetic testing) reportedly had elevated CPK levels previously, suggestive for secondary genetic etiology segregating from HSP gene.

Setting: Academic tertiary care hospital

Assessment/Results: Whole gene sequencing (WGS) was performed and revealed patient’s known SPG4/Spastin pathogenic variant and the NEFL gene variant, a variant of undetermined significance associated with forms of hereditary neuropathy such as Charcot-Marie-Tooth. The NEFL gene variant has been previously shown to be associated with elevated CK level in a 2014 case report.

Discussion (relevance): This case demonstrates a potential secondary genetic component to elevated CPK level in a patient with an intrathecal baclofen pump presenting with acute spasticity.

Conclusions: WGS can serve as a valuable tool for clinicians with diagnostic evaluation and counseling patients on their disease